A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv949322



Internal ID15896592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:46172354..46183833hg38UCSC Ensembl
Innerchr21:47592268..47603747hg19UCSC Ensembl
Innerchr21:46416696..46428175hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3811480
hg1911480
hg1811480
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587963
Supporting Variants
Samples
Known GenesSPATC1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv949322
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer